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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-40627020-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40627020&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40627020,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_001042544.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4037dupC",
"hgvs_p": "p.Arg1347fs",
"transcript": "NM_001042545.2",
"protein_id": "NP_001036010.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1557,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396819.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042545.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4037dupC",
"hgvs_p": "p.Arg1347fs",
"transcript": "ENST00000396819.8",
"protein_id": "ENSP00000380031.5",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1557,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042545.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396819.8"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4238dupC",
"hgvs_p": "p.Arg1414fs",
"transcript": "ENST00000308370.11",
"protein_id": "ENSP00000311905.8",
"transcript_support_level": 1,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4239,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308370.11"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4127dupC",
"hgvs_p": "p.Arg1377fs",
"transcript": "ENST00000204005.13",
"protein_id": "ENSP00000204005.10",
"transcript_support_level": 1,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4128,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204005.13"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1673dupC",
"hgvs_p": "p.Arg559fs",
"transcript": "ENST00000601032.5",
"protein_id": "ENSP00000470824.1",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 671,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601032.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4238dupC",
"hgvs_p": "p.Arg1414fs",
"transcript": "NM_001042544.1",
"protein_id": "NP_001036009.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4239,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042544.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4127dupC",
"hgvs_p": "p.Arg1377fs",
"transcript": "NM_003573.2",
"protein_id": "NP_003564.2",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4128,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003573.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.4061dupC",
"hgvs_p": "p.Arg1355fs",
"transcript": "ENST00000969228.1",
"protein_id": "ENSP00000639287.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1565,
"cds_start": 4062,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969228.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3965dupC",
"hgvs_p": "p.Arg1323fs",
"transcript": "ENST00000908835.1",
"protein_id": "ENSP00000578894.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3966,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908835.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3911dupC",
"hgvs_p": "p.Arg1305fs",
"transcript": "ENST00000908836.1",
"protein_id": "ENSP00000578895.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3912,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908836.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3890dupC",
"hgvs_p": "p.Arg1298fs",
"transcript": "ENST00000969223.1",
"protein_id": "ENSP00000639282.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1508,
"cds_start": 3891,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969223.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3770dupC",
"hgvs_p": "p.Arg1258fs",
"transcript": "ENST00000908838.1",
"protein_id": "ENSP00000578897.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3771,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908838.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3707dupC",
"hgvs_p": "p.Arg1237fs",
"transcript": "ENST00000908834.1",
"protein_id": "ENSP00000578893.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3708,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908834.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3602dupC",
"hgvs_p": "p.Arg1202fs",
"transcript": "ENST00000908837.1",
"protein_id": "ENSP00000578896.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3603,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908837.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3581dupC",
"hgvs_p": "p.Arg1195fs",
"transcript": "ENST00000969221.1",
"protein_id": "ENSP00000639280.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3582,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969221.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3569dupC",
"hgvs_p": "p.Arg1191fs",
"transcript": "ENST00000908840.1",
"protein_id": "ENSP00000578899.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908840.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3551dupC",
"hgvs_p": "p.Arg1185fs",
"transcript": "ENST00000969220.1",
"protein_id": "ENSP00000639279.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3552,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969220.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3512dupC",
"hgvs_p": "p.Arg1172fs",
"transcript": "ENST00000969224.1",
"protein_id": "ENSP00000639283.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3513,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969224.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3464dupC",
"hgvs_p": "p.Arg1156fs",
"transcript": "ENST00000969222.1",
"protein_id": "ENSP00000639281.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3465,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969222.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3431dupC",
"hgvs_p": "p.Arg1145fs",
"transcript": "ENST00000969226.1",
"protein_id": "ENSP00000639285.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3432,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969226.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.3293dupC",
"hgvs_p": "p.Arg1099fs",
"transcript": "ENST00000969225.1",
"protein_id": "ENSP00000639284.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969225.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.2234dupC",
"hgvs_p": "p.Arg746fs",
"transcript": "ENST00000243562.13",
"protein_id": "ENSP00000243562.10",
"transcript_support_level": 2,
"aa_start": 745,
"aa_end": null,
"aa_length": 956,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
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],
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.128,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001042544.1",
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.4238dupC",
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}
],
"clinvar_disease": " gastrointestinal and urinary anomalies,Cutis laxa with severe pulmonary,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}